In-silico analysis of deleterious missense SNPs of human TYR gene associated with oculocutaneous albinism type 1 (OCA1)

Single Nucleotide Polymorphisms (SNPs) are among the major genetic anomalies behind genetically rare disorders. The human TYR gene encodes a key regulatory enzyme, tyrosinase for melanin biosynthesis. Missense mutations in the TYR gene may disrupt the normal function of tyrosinase and cause oculocutaneous Albinism type 1 (OCA1). The present study involves the use of multiple computational tools based on different algorithms for the identification of potential deleterious missense SNPs from the TYR gene. In this study, we identified ten deleterious missense mutations which may be contributing factors for OCA1. The 3D modeling analysis of mutant models of tyrosinase also strengthen the hypothesis that these mutations may induce significant structural and conformational changes on the native tyrosinase enzyme.